Navigation Links
New gene discovered for new form of intellectual disability
Date:4/24/2008

The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP). CAMH also discovered the previously unidentified gene that causes this disorder, CC2D2A. This scientific advance will help understand the developmental and biological processes involved in brain development, and may help identify ways to diagnose and treat intellectual disabilities.

Under the direction of Dr. John Vincent, scientist at CAMH, the team identified a mutation in CC2D2A that causes the production of a shortened protein missing the C2, or calcium-binding, domain. This protein mutation results in faulty cell function, which leads to MR with RP.

Most genes for intellectual disabilities that have been found so far are on the X chromosome. As Dr. Vincent explains, this mutation was found on the autosome (The 22 pairs of non-sex chromosomes, that make up the 46 chromosomes in the human body). Autosomal-recessive inheritance (where both mother and father carry a gene mutation on one chromosome, but both maternal and paternal copies must be passed on to the offspring to cause the disorder) is believed to be relatively common in intellectual disability, though only four genes causing this type of disability have been identified to date.

Whats really exciting is that the new gene, CC2D2A, encodes a protein with domains similar to those found in one of the previous four autosomal recessive MR genes. This link could suggest a common function that is essential for normal brain development, says Dr. Vincent.

Dr. Vincent and his team will continue exploring these initial findings, to help identify more people with mutations affecting the CC2D2A gene. This additional research will provide scientists more clues to understand, diagnose and treat intellectual disabilities.

Intellectual disabilities, also known as developmental delay or mental retardation, are a group of disorders defined by deficits in cognitive and adaptive development. Impacting between one and three percent of the population, a higher proportion of men are affected by this type of disability.


'/>"/>

Contact: Michael Torres
michael_torres@camh.net
416-595-6015
Centre for Addiction and Mental Health
Source:Eurekalert

Related biology news :

1. New source for biofuels discovered
2. Worlds oldest living tree discovered in Sweden
3. Harlequin frog rediscovered in remote region of Colombia
4. Epigenetic changes discovered in major psychosis
5. A common genetic mechanism discovered in nitrogen-fixing plants
6. ASU researcher may have discovered key to life before its origin on Earth
7. Krill discovered living in the Antarctic abyss
8. Generalist bacteria discovered in coastal waters may be more flexible than known before
9. Proteins new role discovered in autoimmune disease
10. Massive dinosaur discovered in Antarctica sheds light on life, distribution of sauropodomorphs
11. Safe and effective therapy discovered for patients with protein-losing enteropathy
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:3/9/2016)... March 9, 2016  Crossmatch ® , a ... solutions, today announced the addition of smart features ... multi-factor authentication platform. New contextual and application-specific ... step-up security where it,s needed most — while ... DC . --> Washington, ...
(Date:3/3/2016)... -- FlexTech, a SEMI Strategic Association Partner, awarded five FLEXI ... Leadership in Education, and, in a category new this ... year of the FLEXI Awards and the winners join ... past years . Judging was done on a set ... by a panel of non-affiliated, independent, industry experts. ...
(Date:3/3/2016)... DE SOTO, Kansas , March 3, 2016 /PRNewswire/ ... offer Oncimmune,s Early CDT®-Lung, a blood test to ... lung cancer Early CDT®-Lung test to its ... --> Early CDT®-Lung test to its clients which ... Oncimmune, a leader in early cancer detection, today announced ...
Breaking Biology News(10 mins):
(Date:4/29/2016)... ... 2016 , ... Proove Biosciences, Inc ., the commercial ... of the Proove Health Foundation . The Foundation is a non-profit organization ... of personalized medicine for tackling the nation’s most-pressing healthcare epidemics. As part of ...
(Date:4/29/2016)... , ... April 29, 2016 , ... ... necessary fundamentals to transform technology into a viable company, CereScan’s CEO, John Kelley, ... Mr. Kelley, a recognized leader and mentor in the Denver area business community, ...
(Date:4/29/2016)... Elekta is pleased to announce ... industry-leading treatment planning software, is available for clinical release. ... version 5.11 provides significant performance speed enhancements over ... to four times faster than in previous versions of ... standard Monte Carlo algorithm, users ...
(Date:4/28/2016)... ... April 28, 2016 , ... Connecticut Innovations ... growing companies, today announced the launch of VentureClash , a $5 million ... , “VentureClash looks to attract the best early-stage companies here in Connecticut, ...
Breaking Biology Technology: